- Causes of Beckwith-Wiedemann Syndrome
- Symptoms of Beckwith-Wiedemann syndrome
- Diagnostic criteria for Beckwith-Wiedemann syndrome
- Treatment of the BWS syndrome
Beckwith-Wiedemann syndrome is a rare genetic disease that is characterized by the excess growth of the body and certain organs. It is most dangerous in infancy and childhood. Patients who reach adulthood have a chance for a normal life.
Beckwith-Wiedemann syndrome (BWS) is the so-called A rare disease which, according to statistics, occurs only once in more than 13,500 births. Depending on the causes (type of genetic mutation), it can be an inherited disease (15% of cases), but more often it is referred to as a sporadic disease.
Beckwith-Wiedemann syndrome can be observed already during pregnancy. In the second trimester, the fetus begins to grow excessively, and so does after birth and during the first years of life.
Characteristic of BWS is also the excessive growth of certain organs (e.g. the tongue) and the enlargement of the islets of the pancreas, which leads to hypoglycemia in newborns. This trend ends around the age of 8, so adults with this condition are not exceptionally tall.After childhood, the disease is stopped and some of the changes (e.g. asymmetric growth of some parts of the body) become even.
Contents:
- Causes of Beckwith-Wiedemann Syndrome
- Symptoms of Beckwith-Wiedemann syndrome
- Diagnostic criteria for Beckwith-Wiedemann syndrome
- Treatment of the BWS syndrome
Causes of Beckwith-Wiedemann Syndrome
BWS has a genetic background - it is caused by various epigenetic or genetic changes that are associated with the 11th chromosome.
Some of the mutations on the chromosome are caused by incorrect gene marking. Part of this is the process of methylation, a chemical reaction in which genes are marked.
A disorder of methylation (so-called parental stigma disorder) results in abnormal expression of growth regulating factors found on chromosome 11 (expression is the process by which genetic information is encoded in proteins). This leads to hypertrophy and other distinctive features of Beckwith-Wiedemann syndrome.
About twenty percent of BWS cases are caused by a genetic change calledpaternal single-parent disomy (UPD). It occurs early in embryonic development and only affects certain cells in the body.
Therefore it is called mosaic and causes an imbalance in active paternal and maternal genes on chromosome 11.
Another cause of BWS is a mutation in the gene that makes a protein that helps control a baby's growth before birth. These abnormalities result in excessive growth of the fetus.
Symptoms of Beckwith-Wiedemann syndrome
Beckwith-Wiedemann syndrome is characterized by faster fetal growth in the second half of pregnancy and faster growth in the first years of life. Babies with BWS are born with macrosomia, have height and weight measurements in the 97th percentile, and their head circumference in the 50th.
Growth disturbances are also expressed in hemihyperplasia, i.e. the growth of one part of the body or one organ, e.g. the tongue (this is the so-called macroglossia). Macroglossia is a serious condition that leads to difficulty swallowing, sleep apnea, and trouble learning to speak.
The face shape with widely spaced eyes (hypertelorism), suborbital wrinkles, and a prominent lower jaw is also typical for children with BWS. Sometimes there is an irreversible development of the middle part of the face (hypoplation) and characteristic bends on the turbinates of the ears.
Mild vascular moles of the Flammeus type (red wine-type stain) are often visible on the face.
Symptoms of Beckwith-Wiedemann syndrome, especially excessive growth, disappear around 8-10 years of age. Unless your baby has any other he alth problems, it usually continues to develop normally.
Usually, however, such he alth problems are present. A common ailment in Beckwith-Wiedemann syndrome is hypoglycemia caused by islet cell hypertrophy and hyperinsulinemia.
Serious threats to life are problems with the heart, such as cardiomyopathy, kidneys, adrenal hyperplasia and a tendency to cancer, which usually appears in the first years of life. The most commonly diagnosed are Wilms' tumors, hepatoma, and neuroblastomas.
Diagnostic criteria for Beckwith-Wiedemann syndrome
Diagnosis of BWS is difficult due to the wide spectrum of symptoms and their diversity. Therefore, specialists divided the symptoms of Beckwith-Wiedemann syndrome into the so-called both big and small.
At the time of diagnosis, it is assumed that the presence of at least three major symptoms or two major and one minor symptoms is confirmed by BWS.
In newborns, the major symptoms are:
- excessive growth infetal and neonatal period
- macroglosia (big language)
- hernia (umbilical, inguinal)
- hemihiperplasia (hemiform hypertrophy)
- more frequent occurrence of neoplasms, e.g. neuroblastoma, Wilms tumor
- adrenal cortex hypertrophy
- enlargement of the liver, pancreas, spleen
- cleft palate (less common)
Minor symptoms are:
- anomalies within the earlobes
- neonatal hypoglycemia
- microcephaly
- facial dysmorphia
- flat vascular mark
- prematurity
- heart defects
- accelerated bone age
- disorders in pregnancy: polyhydramnios, enlarged placenta, thickening of the umbilical cord,
- rectus abdominal muscle (diastasis recti)
In childhood, the following are major symptoms:
- spongy medullary kidney and kidney stones
- underdevelopment of the jaw or unusual, elongated mandible
- hearing loss
- scoliosis (caused by asymmetry)
- childhood cancers
Detection of Beckwith-Wiedemann syndrome is now possible thanks to prenatal examinations (chorionic villus sampling or amniocentesis). Performing tests is recommended especially in the case of people with a family history of this disease.
Treatment of the BWS syndrome
Since Beckwith-Wiedemann syndrome is a genetic disease, it cannot be prevented. Treatment, which is based solely on symptomatic therapy, is also difficult.
The first medical intervention is usually needed to control a newborn's hypoglycaemia (usually a newborn is given a drip to balance the blood sugar level).
The doctor must also decide on a possible hernia surgery in the event of changes in the abdominal cavity.
Mild macroglossia requires speech therapy and orthodontic exercises, but sometimes a surgical reduction of the tongue or plastic surgery of the jaw is necessary - this is especially true when the child is at risk of apnea or having difficulties in eating.
All cancers that show up in the course of the disease in children require strict monitoring and treatment. If the diagnosis of BWS has been confirmed by genetic tests, it is also necessary to check the body for the presence of neoplastic changes, even if they are not present yet.
Children with heart or kidney defects are looked afterspecialists, patients with hemihyperplasia go to physiotherapists (they must undergo regular examinations for scoliosis, typical for this asymmetric hyperplastic lesion).